P24A (p.Pro24Ala) variant of SDHD (O14521)
P24A (p.Pro24Ala) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
P24A (p.Pro24Ala) variant details
- p.Pro24Ala
- ExAC rs775986509
- gnomAD rs775986509
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.53
- AlphaMissense 0.06
- MetaLR 0.60
- MetaSVM -0.43
- CADD 6.62
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available